TUBB1, tubulin beta 1 class VI, 81027

N. diseases: 22; N. variants: 14
Disease: Macrothrombocytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918555
rs121918555
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1
CUI: C2751260
Disease:
Macrothrombocytopenia 		T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs121918555
rs121918555
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1
CUI: C2751260
Disease:
Macrothrombocytopenia 		0.710 GeneticVariation BEFREE We identified the first TUBB1 mutation, R318W, in a patient with congenital macrothrombocytopenia. 18849486 2009
dbSNP: rs371852125
rs371852125
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1
CUI: C2751260
Disease:
Macrothrombocytopenia 		0.010 GeneticVariation BEFREE High-throughput screening led to the detection of a predicted disease-causing heterozygous mutation in the TUBB1 gene: p.G146R, encoding β1-tubulin, a component of the platelet cytoskeleton and a gene where mutations are a known cause of MTP. 31565851 2019
dbSNP: rs1234442507
rs1234442507
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1
CUI: C2751260
Disease:
Macrothrombocytopenia 		0.010 GeneticVariation BEFREE The patient was heterozygous for Q43P, but this single-nucleotide polymorphism (SNP) did not relate to macrothrombocytopenia. 18849486 2009
dbSNP: rs463312
rs463312
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1
CUI: C2751260
Disease:
Macrothrombocytopenia 		0.010 GeneticVariation BEFREE The patient was heterozygous for Q43P, but this single-nucleotide polymorphism (SNP) did not relate to macrothrombocytopenia. 18849486 2009